Rare Disease Day, first launched in 2008 to recognize rare diseases and their devastating impact on patients and society, falls on the last day of February each year. Over the last several years, we have witnessed the power of medical advancements and the extraordinary pace of innovation in tackling rare diseases. This work extends beyond research laboratories and requires community and corporate support to address inequalities in treatment availability so all patients can have access to the resources they need. This February 28th, let’s recognize the opportunity we have as business leaders to make this difference.
In the U.S., a rare disease is defined as a disease impacting fewer than 200,000 Americans. Currently, there are estimated to be over 7,000 rare diseases, impacting an estimated 25 to 30 million individuals, about half of whom are children. However, more than 93% of rare diseases lack a single FDA-approved treatment.
Rare disease treatment development is different; with rare diseases impacting more people than AIDS and cancer combined, we must fight for this underserved population and the small- to mid-sized pharma and biotech companies that exist to serve them. This is what drives me.
Even one person can make a difference when it comes to fighting for the lives and truth of these individuals. Here’s how.
1. Address long-standing inequalities.
Good people and good companies do good things, which is why it’s critical to give a voice to rare disease patients and the companies innovating on their behalf. They want a voice as large as the AIDS and cancer communities and deserve a seat at the table along with them to bring the much-needed levels of awareness required to help save and improve lives.
Life science companies should work to build communities of support for rare disease education and advocacy, shining a brighter light on the debilitating and devastating impacts of these diseases. There are no shortcuts — this is a long-term commitment.
It’s through fostering communities and relationships that we can inspire conversation, drive change and find truth for underserved populations.
2. Stand up against policies that impede progress.
Innovator companies have demonstrated outstanding leadership and made tremendous progress in the fight for rare disease patients, helping to ensure that their stories are told and they receive the support they need to access care and treatment. These companies are going after the toughest challenges for the smallest patient groups but face rising threats and setbacks.
Incentive programs like the Orphan Drug Tax Credit are being targeted by policy leaders as a mechanism to curtail government spending. They minimize the impact of these programs on the research and development of rare disease treatments. Patients who are still waiting for a single treatment see the value of these programs to drive innovation and investment.
Similarly, attacks on the FDA-regulated accelerated approval pathway, which allows drugs for serious conditions that address an unmet medical need to be approved based on perceived clinical benefit, are misguided. Pathways that shorten the timeline for safely getting treatments to patients, particularly in the rare disease space, are often the only hope that patients can cling to while awaiting treatment. Rarely do they have years to wait.
The vast majority of the rare diseases that millions of Americans live with do not have FDA-approved therapies, so we must continue to stand up against policies that limit innovation for these patients who, through it all, maintain hope for better treatments and quality of life.
3. Unlock new opportunities for the research and development of treatments and medicines.
Increasing education and awareness regarding the issues facing the rare disease community is imperative for unlocking new opportunities to better support the research and development of life-saving drugs and treatments.
Patients come first in the rare disease community, which means prioritizing policies that support research and innovation, quick and accurate diagnoses and access to treatments as quickly as possible once approved.
For example, newborn screening can help ensure that every child has the best chance for a healthy life, but the current framework must be strengthened so that the screening keeps pace with the advancements in treatments for rare childhood diseases. A national set of screening best practices across all states is needed to identify rare diseases more quickly in babies, get treatments to them faster and save their lives.
4. Go beyond the transactional.
To break through the challenges facing the rare disease community we must go beyond the transactional. I call on healthcare business leaders to hold conversations with policymakers to increase awareness of and advocacy for rare disease patients and better support for research and development.
The urgent national need for equitable treatment for everyone has been amplified amidst recent societal challenges. Now is the time to speak out in support of the rare disease community and prioritize bottom-line impact on the healthcare industry, patients and caregivers and a society that values equality for all.